Csrp3^tm1.1Rkn
Targeted Allele Detail

Summary

• Symbol: Csrp3^tm1.1Rkn
• Name: cysteine and glycine-rich protein 3; targeted mutation 1.1, Ralph Knoll
• MGI ID: MGI:4947957
• Synonyms: Mlp^W4R
• Gene: Csrp3 Location: Chr7:48480146-48497781 bp, - strand Genetic Position: Chr7, 31.11 cM, cytoband B3
• Alliance: Csrp3^tm1.1Rkn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:170878
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 2 was replaced with one in which a T to C transition results in the amino acid substitution of arginine for tryptophan at position 4 (W4R), mimicking a mutation found in some myocardiopathy patients. A floxed neo cassette inserted downstream of the modified exon 2 was removed by cre-mediated recombination. Reduced protein expression was confirmed by western blot analysis. (J:170878)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Csrp3 Mutation: 15 strains or lines available

References

• Original: J:170878 Knoll R, et al., A common MLP (muscle LIM protein) variant is associated with cardiomyopathy. Circ Res. 2010 Mar 5;106(4):695-704
• All: 2 reference(s)